rs397514689
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs397514689(C;T) |
Make rs397514689(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 63488713 |
Gene | ACE |
is a | snp |
is | mentioned by |
dbSNP | rs397514689 |
dbSNP (classic) | rs397514689 |
ClinGen | rs397514689 |
ebi | rs397514689 |
HLI | rs397514689 |
Exac | rs397514689 |
Gnomad | rs397514689 |
Varsome | rs397514689 |
LitVar | rs397514689 |
Map | rs397514689 |
PheGenI | rs397514689 |
Biobank | rs397514689 |
1000 genomes | rs397514689 |
hgdp | rs397514689 |
ensembl | rs397514689 |
geneview | rs397514689 |
scholar | rs397514689 |
rs397514689 | |
pharmgkb | rs397514689 |
gwascentral | rs397514689 |
openSNP | rs397514689 |
23andMe | rs397514689 |
SNPshot | rs397514689 |
SNPdbe | rs397514689 |
MSV3d | rs397514689 |
GWAS Ctlg | rs397514689 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397514689(T;T) |
Alt | rs397514689(T;T) |
Reference | Rs397514689(C;C) |
Significance | Pathogenic |
Disease | Renal dysplasia |
Variation | info |
Gene | ACE |
CLNDBN | Renal dysplasia |
Reversed | 0 |
HGVS | NC_000017.10:g.61566074C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000043471.29, |